MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
نویسندگان
چکیده
منابع مشابه
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
Mutations in the MTM1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM), a well-defined subtype of human centronuclear myopathy. Seven male Labrador Retrievers, age 14-26 wk, were clinically evaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size, centrally placed nuclei resembling fetal myotubes, and subsarcolemmal ringed and ...
متن کاملX-linked recessive myotubular myopathy with MTM1 mutations
X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive cl...
متن کاملX-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory failure. Herein, we describe a family with 2 infants with XLMTM which was diagnosed by gene analysis and muscle biopsy. In both cases, histologic...
متن کاملIdentification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family.
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy, usually characterized by severe hypotonia and respiratory insufficiency at birth, in affected, male infants. The disease is causally associated with mutations in the MTM1 gene, coding for phosphatase myotubularin. We report a severe case of XLMTM with a novel mutation, at a donor splicing site (c.1467+1G) previously associated ...
متن کاملX-linked myotubular myopathy
X-linked myotubular myopathy (McKusick no. 31040) is a congenital myopathy in which affected male subjects typically present with severe hypotonia and respiratory distress at birth. Surviving patients have prolonged ventilator dependence and grossly delayed motor milestones but usually have intact intelligence.1-3 However, the long-term prognosis as reported in the literature is generally poor,...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2010
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.1003677107